ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3820-7T>C

gnomAD frequency: 0.00022  dbSNP: rs375785915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556926 SCV000633962 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001613346 SCV001835935 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586770 SCV005076679 uncertain significance not specified 2024-04-29 criteria provided, single submitter clinical testing Variant summary: SCN8A c.3820-7T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6.8e-05 in 133124 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3820-7T>C in individuals affected with Early Infantile Epileptic Encephalopathy 13 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 461341). Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV004537941 SCV004751036 likely benign SCN8A-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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